Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5084 | 15475;15476;15477 | chr2:178734574;178734573;178734572 | chr2:179599301;179599300;179599299 |
| N2AB | 4767 | 14524;14525;14526 | chr2:178734574;178734573;178734572 | chr2:179599301;179599300;179599299 |
| N2A | 3840 | 11743;11744;11745 | chr2:178734574;178734573;178734572 | chr2:179599301;179599300;179599299 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | rs748125393  |
-1.035 | 0.81 | N | 0.405 | 0.324 | 0.569491761652 | gnomAD-2.1.1 | 4.39E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.53E-06 | 0 |
| A/E | rs748125393 |
-1.035 | 0.81 | N | 0.405 | 0.324 | 0.569491761652 | gnomAD-4.0.0 | 4.18523E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.64473E-06 | 0 | 3.38043E-05 |
| A/V | rs748125393 |
None | 0.007 | N | 0.106 | 0.172 | 0.28058544554 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs748125393 |
None | 0.007 | N | 0.106 | 0.172 | 0.28058544554 | gnomAD-4.0.0 | 1.26122E-06 | None | None | None | None | N | None | 1.35259E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58002E-07 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4627 | ambiguous | 0.4076 | ambiguous | -0.62 | Destabilizing | 0.977 | D | 0.41 | neutral | None | None | None | None | N |
| A/D | 0.3218 | likely_benign | 0.2432 | benign | -0.965 | Destabilizing | 0.85 | D | 0.41 | neutral | None | None | None | None | N |
| A/E | 0.2257 | likely_benign | 0.176 | benign | -1.073 | Destabilizing | 0.81 | D | 0.405 | neutral | N | 0.511815984 | None | None | N |
| A/F | 0.3721 | ambiguous | 0.3025 | benign | -0.962 | Destabilizing | 0.92 | D | 0.449 | neutral | None | None | None | None | N |
| A/G | 0.1646 | likely_benign | 0.1424 | benign | -0.682 | Destabilizing | 0.549 | D | 0.375 | neutral | N | 0.514093817 | None | None | N |
| A/H | 0.4996 | ambiguous | 0.398 | ambiguous | -0.833 | Destabilizing | 0.992 | D | 0.433 | neutral | None | None | None | None | N |
| A/I | 0.241 | likely_benign | 0.1868 | benign | -0.361 | Destabilizing | 0.021 | N | 0.256 | neutral | None | None | None | None | N |
| A/K | 0.3645 | ambiguous | 0.289 | benign | -1.033 | Destabilizing | 0.85 | D | 0.396 | neutral | None | None | None | None | N |
| A/L | 0.2095 | likely_benign | 0.1583 | benign | -0.361 | Destabilizing | 0.25 | N | 0.37 | neutral | None | None | None | None | N |
| A/M | 0.2122 | likely_benign | 0.1717 | benign | -0.34 | Destabilizing | 0.92 | D | 0.437 | neutral | None | None | None | None | N |
| A/N | 0.3003 | likely_benign | 0.2339 | benign | -0.616 | Destabilizing | 0.85 | D | 0.44 | neutral | None | None | None | None | N |
| A/P | 0.8007 | likely_pathogenic | 0.6452 | pathogenic | -0.385 | Destabilizing | 0.896 | D | 0.413 | neutral | N | 0.515256093 | None | None | N |
| A/Q | 0.296 | likely_benign | 0.2444 | benign | -0.864 | Destabilizing | 0.92 | D | 0.442 | neutral | None | None | None | None | N |
| A/R | 0.3274 | likely_benign | 0.263 | benign | -0.554 | Destabilizing | 0.85 | D | 0.427 | neutral | None | None | None | None | N |
| A/S | 0.1045 | likely_benign | 0.0992 | benign | -0.79 | Destabilizing | 0.379 | N | 0.424 | neutral | N | 0.494318846 | None | None | N |
| A/T | 0.0827 | likely_benign | 0.0735 | benign | -0.823 | Destabilizing | 0.004 | N | 0.305 | neutral | N | 0.462260883 | None | None | N |
| A/V | 0.1148 | likely_benign | 0.097 | benign | -0.385 | Destabilizing | 0.007 | N | 0.106 | neutral | N | 0.379849813 | None | None | N |
| A/W | 0.7613 | likely_pathogenic | 0.6619 | pathogenic | -1.209 | Destabilizing | 0.992 | D | 0.557 | neutral | None | None | None | None | N |
| A/Y | 0.5163 | ambiguous | 0.4219 | ambiguous | -0.848 | Destabilizing | 0.92 | D | 0.453 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.